|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “tectorin alpha.”
TECTA is the gene's official symbol. The TECTA gene is also known by other names, listed below.
The TECTA gene provides instructions for making a protein called alpha-tectorin. This protein is found in the inner ear, as part of a structure called the tectorial membrane. The tectorial membrane helps to convert sound waves to nerve impulses, a critical process for normal hearing.
Alpha-tectorin interacts with other proteins to form the tectorial membrane. Two regions of the alpha-tectorin protein, called the vWFD domain and the zona pellucida domain, are important for protein interactions and assembly of the tectorial membrane.
Researchers have identified several TECTA gene mutations that cause a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNA8/A12. DFNA8/A12 deafness is inherited in an autosomal dominant manner, which means that one copy of an altered TECTA gene in each cell is sufficient to cause hearing loss. TECTA gene mutations replace one of the protein building blocks (amino acids) used to make alpha-tectorin with an incorrect amino acid. TECTA gene mutations affect the vWFD domain or the zona pellucida domain, which are important regions for interactions with other proteins. If the amino acid replacement alters normal protein interactions, it could disrupt the structure of the tectorial membrane and the conversion of sound to nerve impulses.
Researchers have also identified a few TECTA gene mutations that cause a form of nonsyndromic deafness called DFNB21. DFNB21 deafness is inherited in an autosomal recessive manner, which means two copies of the TECTA gene in each cell are altered. These TECTA gene mutations create a premature stop signal in the instructions for making the alpha-tectorin protein. Although the effect of these mutations is not fully understood, most likely no protein is produced or an abnormally small protein is made. A missing or abnormally small alpha-tectorin protein would disrupt the structure of the tectorial membrane and the conversion of sound to nerve impulses.
Cytogenetic Location: 11q22-q24
Molecular Location on chromosome 11: base pairs 121,102,665 to 121,191,492
The TECTA gene is located on the long (q) arm of chromosome 11 between positions 22 and 24.
More precisely, the TECTA gene is located from base pair 121,102,665 to base pair 121,191,492 on chromosome 11.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about TECTA helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; amino acid ; autosomal ; autosomal dominant ; autosomal recessive ; cell ; domain ; gene ; protein ; recessive ; tectorial membrane
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.